| Accession | HsInv1319 | Region of the inversion | chr14:61321055-61332240 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 1,186 bp | Supporting predictions | 1 |
| Inverted allele frequency | NA | Mechanism of origin | NA |
| Functional effect | Inverts a region within an exon of a gene | Breakpoint 1 | chr14:61321055-61331055 |
| Ancestral orientation | NA | Breakpoint 2 | chr14:61322240-61332240 |
| Comments | False inversion prediction caused by an inverted duplication
|
||
|
|
 |
|
|
Human Polymorphic Inversion DataBase
|
General information
- Region map
+ Predictions
| Description | Integrated analysis of structural variants in 2,504 human genomes through short-read and long-read DNA sequencing and statistical imputation using the 1000 Genomes Project data | ||||||||||
| Method | Paired-end mapping (PEM), Long-read sequencing | ||||||||||
| Name | |||
| Breakpoint 1 | chr14:61326055-61326055 | Breakpoint 2 | chr14:61327240-61327240 |
| Individuals | 25 out of 2504 individuals
 | ||
+ Validation and genotyping
| Description | Integrated analysis of structural variants in 2,504 human genomes through short-read and long-read DNA sequencing and statistical imputation using the 1000 Genomes Project data | ||||
| Method | Sequence analysis |
| Status | False |
| Comment | Inverted duplication validated by sequence analysis of PacBio long reads from long-range PCR amplicons |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr14:61321055-61331055 | Breakpoint 2 | chr14:61322240-61332240 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
NA
|
||||
| Flexibility | 11.33 | GC content | 0.34 | Stability | 1.76 |
+ Evolutionary history
| Ancestral allele | NA | Age | ND |
| Derived allele | NA | Origin | ND |
+ Orientation in other species
Not defined
+ Age
Not defined
+ Origin
Not defined
+ Functional effects
- SNAPC1
| Gene position | chr14:61298827-61332899 |
| Mechanism | Inverts a region within an exon of a gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2017-09-18 00:00:00
| Breakpoint 1 | chr14:61321055-61331055 | Breakpoint 2 | chr14:61322240-61332240 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
